Canonical Allele Identifier: CA2448283211

Gene: BTK

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353879A= , CM000685.2:g.101353879A=	GRCh38
NC_000023.10:g.100608867A= , CM000685.1:g.100608867A=	GRCh37
NC_000023.9:g.100495523A=	NCBI36
NG_009616.1:g.37346T= , LRG_128:g.37346T=
NG_011734.1:g.91T=

Transcript Alleles

HGVS	Amino-acid Change
NM_000061.3:c.1741T= MANE Select	NP_000052.1:p.Trp581=
ENST00000308731.8:c.1741T= MANE Select	ENSP00000308176.8:p.Trp581=
NM_000061.2:c.1741T= , LRG_128t1:c.1741T=	NP_000052.1:p.Trp581=
NM_001287344.1:c.1843T=	NP_001274273.1:p.Trp615=
NM_001287344.2:c.1843T=	NP_001274273.1:p.Trp615=
NM_001287345.1:c.1213T=	NP_001274274.1:p.Trp405=
NM_001287345.2:c.1213T=	NP_001274274.1:p.Trp405=
ENST00000308731.7:c.1741T=	ENSP00000308176.7:p.Trp581=
ENST00000372880.5:c.1213T=	ENSP00000361971.1:p.Trp405=
ENST00000470069.1:n.106T=
ENST00000478995.2:n.3258T=
ENST00000488970.1:n.343T=
ENST00000488970.2:n.3897T=
ENST00000618050.4:c.1740T=	ENSP00000479125.1:n.1740T=
ENST00000621635.4:c.1843T=	ENSP00000483570.1:p.Trp615=
ENST00000695614.1:c.1741T=	ENSP00000512053.1:p.Trp581=
ENST00000695615.1:c.1741T=	ENSP00000512054.1:p.Trp581=
ENST00000695616.1:c.*1586T=	ENSP00000512055.1:n.*1586T=
ENST00000695617.1:c.1738T=	ENSP00000512056.1:p.Trp580=
ENST00000695618.1:c.*1490T=	ENSP00000512058.1:n.*1490T=
ENST00000695619.1:c.*1451T=	ENSP00000512059.1:n.*1451T=
ENST00000695620.1:c.*1667T=	ENSP00000512060.1:n.*1667T=
ENST00000695621.1:c.*166T=	ENSP00000512061.1:n.*166T=
ENST00000695622.1:c.1678T=	ENSP00000512062.1:p.Trp560=
ENST00000695623.1:c.1735T=	ENSP00000512063.1:p.Trp579=
ENST00000695624.1:n.1046T=
ENST00000695625.1:c.1741T=	ENSP00000512064.1:p.Trp581=
ENST00000695626.1:c.496T=	ENSP00000512065.1:n.496T=
ENST00000695627.1:c.689T=	ENSP00000512066.1:n.689T=
ENST00000695628.1:c.300T=	ENSP00000512067.1:n.300T=
ENST00000695629.1:c.191-528T=	ENSP00000512068.1:n.191-528T=
ENST00000695630.1:c.468T=
ENST00000695631.1:c.115-631T=
ENST00000703407.1:c.1213T=	ENSP00000512057.1:p.Trp405=